Article
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.
Human molecular genetics - 1 Sept 2018
Cukrov Dubravka, Newman Trent A C, Leask Megan, Leeke Bryony, Sarogni Patrizia, Patimo Alessandra, Kline Antonie D, Krantz Ian D, Horsfield Julia A, Musio Antonio
Abstract excerpt
Cornelia de Lange syndrome (CdLS) is a rare disease characterized by cognitive impairment, multisystemic alterations and premature aging. Furthermore, CdLS cells display gene expression dysregulation and genomic instability. Here, we demonstrated that treatment with antioxidant drugs, such as ascorbic acid and riboceine, reduced the level of genomic instability and extended the in vitro lifespan of CdLS cell...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.